BRCA2 mutation

Three pathogenic variants, BRCA2 [c.6509A>G; c.7879A>T; c.5574_5577delAATT] and PALB2 [c.1592delT], were identified in high-risk genes important for breast cancer prediction. Identification of population-based variants may improve breast cancer screening and management in Sri Lanka.

P2/3, N=582, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Jul 2026 --> Dec 2026

P2, N=120, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Jun 2026 --> Nov 2026

The BRAIx risk score is a strong intermediate-term predictor of breast cancer (current to 4-year risk). Calibrating the score on a training dataset produces population-specific probabilities for calculating individual-specific risk scores for screening clients based on their mammogram images. These risk scores enable future development of personalised screening pathways to transform population breast cancer screening and save lives. Identification of women given an all clear but at very high risk, similar to those carrying BRCA1 and BRCA2 mutations, could reveal insights into both familial and non-familial causes of breast cancer.

At 20 months the patient is disease-free with regular menses and intact fertility. We review diagnostic clues, differential diagnoses, molecular taxonomy and fertility-sparing strategies, underscoring the value of comprehensive genomic profiling for accurate classification and prognostication of this uncommon uterine tumor.

P2, N=70, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Aug 2026 --> Nov 2026

P3, N=579, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Aug 2026 --> Nov 2026

HRD status is a prognostic biomarker in HGSC. Its correlation with SET patterns supports histology as an initial screening tool. Importantly, NACT is correlated with reduced detectable HRD positivity and lower GSS, underscoring the need for HRD testing before chemotherapy to ensure accurate assessment and guide treatment.

Older patients experienced a significantly higher toxicity burden, with increased rates of treatment discontinuation, dose reductions, treatment delays, hospitalizations, and grade ≥3 neutropenia. Taken together, these data indicate that older patients with TNBC harbor distinct biological and clinical features with numerically lower pCR rates, and that the increased toxicity burden underscores the need for personalized treatment strategies and dedicated research in this population.

This case involves a patient with a pathogenic BRCA2 mutation diagnosed with linitis plastica, a diffuse form of GC characterized by stiffening of the gastric lining, akin to a "leather bottle." This case highlights the importance of further research to elucidate the connection between GC and BRCA2 mutations, which may lead to expanded surveillance guidelines for affected individuals. Clinicians should consider the potential elevated risk of GC in patients with BRCA2 mutations.

Although drug therapy and radiation therapy were recommended after the operation, the patient was under observation due to his advanced age. A brief literature review is presented in this section.

Herein, a series of novel c-Met/PARP dual-target inhibitors based on the moiety of Olaparib were designed and synthesized...In particular, L19 exhibited good in vivo antitumor activity (tumor growth inhibition (TGI) rate = 32%) in MDA-MB-231 xenograft models with low toxicity. Taken together, our designed dual c-Met/PARP inhibitors are novel and promising agents for the treatment of BRCA wild-type TNBC.